Results 41 to 50 of about 167,087,863 (243)

Characterizing Cutaneous α‐Synuclein Deposition and Seeding Activity in Parkinson's Disease Subtypes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cutaneous phosphorylated α‐synuclein (p‐syn) and α‐synuclein seeding activity are promising biomarkers for Parkinson's disease (PD), but their clinical value remains uncertain due to disease heterogeneity. This study evaluates these two biomarkers in PD patients to inform phenotype‐specific diagnosis and disease severity assessment ...
Yuting Jin, Tianyuan Yang, Minglei Liu, Haiyang Luo, Jing Yuan, Ke Zhang, Xinsheng Han, Jing Yang, Yuming Xu   +8 more
wiley   +1 more source

Loss of mitogen-activated protein kinase kinase kinase 4 (MAP3K4) reveals a requirement for MAPK signalling in mouse sex determination.

PLoS Biology, 2009
Sex determination in mammals is controlled by the presence or absence of the Y-linked gene SRY. In the developing male (XY) gonad, sex-determining region of the Y (SRY) protein acts to up-regulate expression of the related gene, SOX9, a transcriptional ...
Debora Bogani, Pam Siggers, Rachel Brixey, Nick Warr, Sarah Beddow, Jessica Edwards, Debbie Williams, Dagmar Wilhelm, Peter Koopman, Richard A Flavell, Hongbo Chi, Harry Ostrer, Sara Wells, Michael Cheeseman, Andy Greenfield   +14 more
doaj   +1 more source

Sex dimorphism of weight and length at birth: evidence based on disorders of sex development

Annals of Human Biology, 2022
Background Males have higher weight and length at birth than females. Aim To verify the influence of the Y chromosome and the action of intrauterine androgens on weight and length at birth of children with Disorders of Sex Development (DSD). Subjects and
D.S.R. Amais, T.E.R. da Silva, B.A. Barros, J.G.R. de Andrade, S.H.V. de Lemos-Marini, M.P. de Mello, A.P. Marques-de-Faria, T.N. Mazzola, M.S. Guaragna, H. Fabbri-Scallet, T.A.P. Vieira, N.L. Viguetti-Campos, A.M. Morcillo, O. Hiort, A.T. Maciel-Guerra, G. Guerra-Junior   +15 more
doaj   +1 more source

Non-Syndromic 46,XY Disorders of Sex Development

, 2018
Non-syndromic 46,XY DSD (disorders of sex development) represent a phenotypically diversiform group of disorders. We focus on the association between gene variants and the most frequent types of non-syndromic 46,XY DSD, options of molecular genetic ...
Banovcin P, Gecz J, Breza J
core   +1 more source

Early Clinical and Cerebrospinal Fluid Predictors of 1‐Year Recurrence in Autoimmune GFAP Astrocytopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Autoimmune glial fibrillary acidic protein astrocytopathy (GFAP‐A) is an inflammatory central nervous system disorder with variable outcomes. Relapse occurs in a subset of patients, but early predictors remain unclear. We aimed to identify admission‐available features associated with 1‐year recurrence and develop an interpretable ...
Qingting Hong, Yuping Xiao, Yuhan Wu, Ziyuan Huang, Weishan Liang, Li Xiao, Yaqing Shu, Tingting Lu, Yanyu Chang, Wei Qiu, Yuge Wang   +10 more
wiley   +1 more source

Variability in Sex Assignment at Birth and Etiological Diagnosis of Differences of Sex Development: A Ten-Year Institutional Experience from Assam

Indian Journal of Endocrinology and Metabolism
Introduction: Differences of sex development (DSD) also known as disorders of sex development encompass a wide spectrum of conditions with varying clinical presentations across different age groups. This study aims to analyse various aetiologies of DSD
Praveen Nagarajaiah, Ashok K Bhuyan, Abhamoni Baro, Uma K Saikia   +3 more
doaj   +1 more source

Persistent Mullerian Duct Syndrome presenting as irreducible inguinal hernia – A surprise surgical finding!

Journal of Pediatric Surgery Case Reports, 2017
Persistent Mullerian Duct Syndrome (PMDS) is diagnosed as a discrepancy between masculine external genitalia and female internal genitalia during surgery for cryptorchidism or inguinal hernia.
V. Sekhon, M. Luthra, G. Jevalikar
doaj   +1 more source

Cytogenetic and molecular insight into the genetic background of disorders of sex development in seventeen cats

Scientific Reports, 2022
The genetic background of feline disorders of sex development (DSDs) is poorly understood. We performed comprehensive cytogenetic, molecular, and histological studies of 17 cats with abnormal external genitalia, unusual behavior, or tricolor coats ...
Monika Stachowiak, Izabela Szczerbal, Joanna Nowacka-Woszuk, Tomasz Nowak, Natalia Sowinska, Anna Lukomska, Maciej Gogulski, Malgorzata Badura, Karolina Sklorz-Mencel, Dariusz Jagodka, Wojciech Nizanski, Stanislaw Dzimira, Marek Switonski   +12 more
doaj   +1 more source

46 XY undervirulized male DSD: Reporting a patient with prenatally diagnosed disorder/difference of sex development (DSD) with heterozygous LHCGR mutations

Urology Case Reports, 2022
Leydig cell hypoplasia is a rare autosomal recessive condition caused by mutations in luteinizing hormone/chorionic gonadotropin receptor (LHCGR) genes in which 46, XY patients demonstrate a wide spectrum of disorders/differences of sex development (DSD)
Kiarad Fendereski, John Carey, Kathleen Timme, Katherine Hayes, Jessica Robnett, Anthony Schaeffer   +5 more
doaj   +1 more source

Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin? [PDF]

, 2018
SF-1/NR5A1 is a transcriptional regulator of adrenal and gonadal development. NR5A1 disease-causing variants cause disorders of sex development (DSD) and adrenal failure, but most affected individuals show a broad DSD/reproductive phenotype only.
Audí, Laura, Schaller, André, André Schaller, Camats Tarruella, Núria, Núria Camats, Mónica Fernández-Cancio, Christa E. Flück, Flück Pandey, Christa Emma, Fernández-Cancio, Mónica, Laura Audí   +9 more
core   +1 more source